Methylmalonic aciduria and homocystinuria, cblD type

(CblD disease)

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- MMADHC / MMADHC
  2q23.2
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Methylmalonic aciduria and homocystinuria type cblD protein
Disease group(s)
- 21.9.2 Disorders of intracellular cobalamin metabolism
Child entries
- CblD-homocystinuria
- CblD-methylmalonic aciduria